rs397514737, GABRG2

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
0.800 GeneticVariation UNIPROT First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. 11326274 2001
GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
CUI: C1858674
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 3
0.800 CausalMutation CLINVAR
Epilepsy, Rolandic
CUI: C0376532
Disease: Epilepsy, Rolandic
0.700 CausalMutation CLINVAR Exome-wide analysis of mutational burden in patients with typical and atypical Rolandic epilepsy. 29358611 2018
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Allosteric and hyperekplexic mutant phenotypes investigated on an α1 glycine receptor transmembrane structure. 25730860 2015
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes. 25726841 2015
Seizures
CUI: C0036572
Disease: Seizures
0.700 CausalMutation CLINVAR Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
0.010 GeneticVariation BEFREE Recently, we performed next generation sequencing on patients with a spectrum of epileptic encephalopathy phenotypes, and we identified five novel (A106T, I107T, P282S, R323W and F343L) and one known (R323Q) de novo GABRG2 pathogenic variants (mutations) in eight patients. 27864268 2017